Researchers investigated the long-term effects of enzyme replacement therapy (ERT) in elderly patients with late-onset Pompe disease (LOPD) and concluded that it led to highly variable but satisfactory outcomes in motor and respiratory function, as published in Neuromuscular Disorders.
Patients with LOPD have been treated with ERT such as recombinant human acid alpha-glucosidase (rhGAA), otherwise known as alglucosidase alfa, since 2006. Initial studies indicated improved clinical outcomes.
Since more than a decade has passed since ERT was introduced, medical researchers have had the opportunity to study its long-term effects on the course of LOPD. Recent studies demonstrate that long-term benefits include improved muscle strength, pulmonary function, and the ability to carry out daily activities.
Winkler et al decided to carry out a retrospective study of elderly patients with LOPD (n=6) seen at the University Hospital of Bonn in Germany. The inclusion criteria included being diagnosed after 50 years of age, receiving ERT with 20mg/kg alglucosidase alfa intravenously once every 2 weeks, and having an active follow-up.
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The measurement criteria included the 6 Minute Walk Test, muscle strength using the Medical Research Council Scale, the Quick Motor Function Test, and forced vital capacity in an upright and supine position. Creatinine kinase levels and immunoglobulin-G antibody titers against rhGAA were also analyzed. The results demonstrated that long-term ERT effects were heterogeneous in elderly patients with LOPD.
“6 Minute Walk Test and forced vital capacity in a supine position showed best results. Respiratory data indicated a favorable treatment effect on diaphragm muscles,” Winkler and colleagues said. “Antibody titers against Alglucosidase Alfa were not associated with therapy effects. Best responders were female, still ambulatory and without ventilatory support.”
The significance of this study is that it attempts to contextualize the effect of ERT in patients with LOPD over the span of several years.
“An increasing knowledge on the long-term results of elderly LOPD patients treated with the currently only available ERT Alglucosidase Alfa is especially important against the background of emerging new treatment options including advanced ERT products and gene replacement therapies,” the authors concluded.
Winkler M, von Landenberg C, Kuchenbecker K, Reimann J, Kornblum C. Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease. Neuromuscul Dis. Published online January 13, 2022. doi:10.1016/j.nmd.2022.01.001